scholarly journals Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

2012 ◽  
Vol 21 (16) ◽  
pp. 3695-3702 ◽  
Author(s):  
Elias ElInati ◽  
Paul Kuentz ◽  
Claire Redin ◽  
Sara Jaber ◽  
Frauke Vanden Meerschaut ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Recombination Hotspots

scholarly journals The M26 Hotspot of Schizosaccharomyces pombe Stimulates Meiotic Ectopic Recombination and Chromosomal Rearrangements

Genetics ◽  
1998 ◽  
Vol 149 (3) ◽  
pp. 1191-1204 ◽  
Author(s):  
Jeffrey B Virgin ◽  
Jeffrey P Bailey
Keyword(s):  
Homologous Recombination ◽  
Schizosaccharomyces Pombe ◽  
Dna Sequences ◽  
Chromosomal Rearrangements ◽  
Low Frequency ◽  
Repeated Sequences ◽  
Crossing Over ◽  
Ectopic Recombination ◽  
Recombination Hotspots ◽  
Integration Sites

Abstract Homologous recombination is increased during meiosis between DNA sequences at the same chromosomal position (allelic recombination) and at different chromosomal positions (ectopic recombination). Recombination hotspots are important elements in controlling meiotic allelic recombination. We have used artificially dispersed copies of the ade6 gene in Schizosaccharomyces pombe to study hotspot activity in meiotic ectopic recombination. Ectopic recombination was reduced 10–1000-fold relative to allelic recombination, and was similar to the low frequency of ectopic recombination between naturally repeated sequences in S. pombe. The M26 hotspot was active in ectopic recombination in some, but not all, integration sites, with the same pattern of activity and inactivity in ectopic and allelic recombination. Crossing over in ectopic recombination, resulting in chromosomal rearrangements, was associated with 35–60% of recombination events and was stimulated 12-fold by M26. These results suggest overlap in the mechanisms of ectopic and allelic recombination and indicate that hotspots can stimulate chromosomal rearrangements.

scholarly journals Homoeologous exchanges occur through intragenic recombination generating novel transcripts and proteins in wheat and other polyploids

2020 ◽  
pp. 202003505 ◽  
Author(s):  
Zhibin Zhang ◽  
Xiaowan Gou ◽  
Hongwei Xun ◽  
Yao Bian ◽  
Xintong Ma ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Molecular Mechanisms ◽  
Genome Structure ◽  
Whole Genome Sequence ◽  
Intragenic Recombination ◽  
Protein Fusion ◽  
Coding Regions ◽  
Recombination Hotspots ◽  
Widespread Phenomenon ◽  
Arabidopsis Suecica

Recombination between homeologous chromosomes, also known as homeologous exchange (HE), plays a significant role in shaping genome structure and gene expression in interspecific hybrids and allopolyploids of several plant species. However, the molecular mechanisms that govern HEs are not well understood. Here, we studied HE events in the progeny of a nascent allotetraploid (genome AADD) derived from two diploid progenitors of hexaploid bread wheat using cytological and whole-genome sequence analyses. In total, 37 HEs were identified and HE junctions were mapped precisely. HEs exhibit typical patterns of homologous recombination hotspots, being biased toward low-copy, subtelomeric regions of chromosome arms and showing association with known recombination hotspot motifs. But, strikingly, while homologous recombination preferentially takes place upstream and downstream of coding regions, HEs are highly enriched within gene bodies, giving rise to novel recombinant transcripts, which in turn are predicted to generate new protein fusion variants. To test whether this is a widespread phenomenon, a dataset of high-resolution HE junctions was analyzed for allopolyploid Brassica, rice, Arabidopsis suecica, banana, and peanut. Intragenic recombination and formation of chimeric genes was detected in HEs of all species and was prominent in most of them. HE thus provides a mechanism for evolutionary novelty in transcript and protein sequences in nascent allopolyploids.

scholarly journals Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

2017 ◽  
Vol 38 (12) ◽  
pp. 1711-1722 ◽  
Author(s):  
Morten Hillmer ◽  
Anna Summerer ◽  
Victor-Felix Mautner ◽  
Josef Högel ◽  
David N. Cooper ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Haplotype Diversity ◽  
Recombination Hotspots ◽  
Nonallelic Homologous Recombination ◽  
Rearrangement Breakpoint

scholarly journals Non-allelic homologous recombination of Alu and LINE-1 elements generates somatic complexity in human genomes

2020 ◽  
Author(s):  
G. Pascarella ◽  
K. Hashimoto ◽  
A. Busch ◽  
J Luginbühl ◽  
C. Parr ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Cell Fate ◽  
Genetic Disorders ◽  
Genomic Diversity ◽  
Cancer Genes ◽  
Repeat Elements ◽  
Recombination Hotspots ◽  
Human Genomes ◽  
Cell Type Specific ◽  
Induced Pluripotent

AbstractMillions of Alu and LINE-1 copies in our genomes contribute to evolution and genetic disorders via non-allelic homologous recombination (NAHR), but the somatic extent of these rearrangements has not been systematically investigated. Here we combined high-throughput capture and sequencing of repeat elements with a new bioinformatic pipeline to show that somatic NAHR of Alu and LINE-1 elements is common in human genomes. We describe tissue-specific hallmarks of NAHR, and show that retroelements acting as recombination hotspots are enriched in cancer genes and structural variants. Analysis of recombination in human induced pluripotent stem cells and differentiated neurons revealed a neuron-specific recombination signature suggesting that the emergence of cell type-specific recombination profiles accompanies cell-fate determination. Finally, we found that somatic NAHR profiles are altered in Parkinson’s and Alzheimer’s disease, indicating a link between retroelements recombination and genomic instability in neurodegeneration. This work shows that somatic recombination of repeat elements contributes massively to genomic diversity, and that extensive recombinogenic activity of retroelements may act as a grey eminence in the transition from health to disease.

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